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Article

Detecting haplotype-specific transcript variation in long reads with FLAIR2.

Genome biology - 2 Jul 2024

Tang Alison D, Felton Colette, Hrabeta-Robinson Eva, Volden Roger, Vollmers Christopher, Brooks Angela N

Abstract excerpt

BACKGROUND: RNA-seq has brought forth significant discoveries regarding aberrations in RNA processing, implicating these RNA variants in a variety of diseases. Aberrant splicing and single nucleotide variants (SNVs) in RNA have been demonstrated to alter transcript stability, localization, and function. In particular, the upregulation of ADAR, an enzyme that mediates adenosine-to-inosine editing, has been...

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Identifiers

PMID: 38956576
DOI: 10.1186/s13059-024-03301-y
PMCID: PMC11218413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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